title: Autosomal recessive Robinow syndrome.
abstract: Two brothers of normal first-cousin parents were found to have Robinow syndrome. Their paternal uncle also married a first cousin and had 3 similarly affected children (2 boys, 1 girl). The 2 affected brothers had short stature, mesomelic and acromelic brachymelia, characteristic face with hypertelorism, wide palpebral fissures, midface hypoplasia and large mouth, and hypogenitalism. Parental consanguinity and affected individuals in 2 sibships of common ancestry strongly suggest autosomal recessive inheritance. Similar cases from the literature are briefly reviewed.
authors.affiliation: Kuwait Medical Genetics Centre, Maternity Hospital.
authors.forename: A S
authors.initials: AS
authors.lastname: Teebi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D005149:Facial Expression; D005808:Genes, Recessive; D005837:Genitalia, Male / Q000002:abnormalities*; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007223:Infant; D008297:Male; D010375:Pedigree; D013577:Syndrome